More than four million infants in the U.S. undergo newborn screening each year, but further genetic testing – although increasingly available and advanced – is less common. Ultimately, newborn screening panels vary from state to state, but parents can talk to their doctors about what other screenings might be available for their newborns.
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In 2013, new guidelines on testing newborns and children for genetic diseases recommended screening for childhood diseases but noted that testing for diseases that strike in adulthood may not be worthwhile.
All newborns should be tested for the genetic diseases that are included in their state's newborn screening panel, but anything beyond that is up to parents and the decision must be made in the child's best interest, according to the policy statement from the American Academy of Pediatrics and the American College of Medical Genetics and Genomics.
The recommendations from these organizations distinguish between genetic testing for childhood-onset conditions versus those for adult-onset conditions. For kids who may be at risk for a childhood disease, testing is worth considering, the guidelines state, but the same does not hold true if the child is thought to be at risk for a disease that strikes in adulthood.
Experts put heavy emphasis on the important role of counseling before and after genetic screening. The focus should be on educating families, guiding them to the right resources for their situation and helping them make decisions that are in the child's best interest.
Recommended guidelines do not call for any specific genetic tests; instead they recommend mandatory offering of state newborn screening panels. Parents should know that the benefits of screening outweigh the risks, especially considering all states should already be screening for at least the uniform panel and that the screening is included in costs of a hospital birth.
Testing for disease in the presence of symptoms is another area addressed by the recommended guidelines. Clearly, if a child has symptoms, a diagnosis is required to help the family make clinical decisions that are in the child's best interest. This is important even when the disease has no current therapies.
It may help families to inform their children of the results of their screenings when they reach an appropriate age, but that is something each family has to decide for themselves.
If there is a family history of a genetic disease, even adult-onset ones, there are some instances where knowing this early will make a difference. This includes certain cancers, including a rare type of inherited colon cancer. Getting the information earlier gives the opportunity to do appropriate surveillance on the children and prevent the onset of significant disease.
However, parents should use caution when using direct-to-consumer genetic screening tests, because there is no oversight and the results are open to interpretation. These are highly discouraged, even on adults, and particularly on children, because there is nobody there to provide counseling and interpretation. These can also be very costly, and are likely not covered by insurance.